1.Name of the genetic disease. Huntington's Disease
2. Symptoms of disease produces three types of symptoms: movement, cognitive, and psychiatric. The sequence in which symptoms develop varies from person to person.
3. When is the disease usually detected... at birth or later in life? Later in life, this disease slowly develops in 15 to 20 years.
4. Frequency of carriers of this disease in the population- no carriers, you have it or you don't
5. Frequency of disease in the population- 49129 in 2009
6. Mode of inheritance. Is disease dominant, recessive, sex-linked or due to non-disjunction? has autosomal dominant inheritance, meaning that an affected individual typically inherits one copy of the gene with an expanded trinucleotide repeat from an affected parent. Since penetrance of the mutation is very high, those who have a mutated copy of the gene will have the disease.
7. Is disease autosomal ( on the first 22 pairs of chromosomes), or is it on the X-linked or sex chromosomes? Huntington is autosomal dominant inheritance. This disease is a sex linked chromosome.
8. What chromosome number has been determined to carry this gene? People with chromosomes have 36-40 chromosomes.
9. What treatment, if any, is used for this disease? How does the treatment affect the disease? Treatment focuses on reducing symptoms, preventing complications, and providing support and assistance to the patient and those close to him or her.
10. What is the prognosis or outlook for your baby's recovery? You get the disease about 15- 20years in your life and it slowly kills you in about 10 years.
11. What future techniques might be used to correct or eliminate your baby's disease? There is no cure they will slowly die.
12. Discuss in detail what difficulties, if any, a parent would encounter in raising a child with this disease. Parents will have many mental emotions because there child will die at an early age.
13. Include diagrams of your child or factors related to your disease.bbitch please?
external image moz-screenshot-2.pngexternal image moz-screenshot-3.pngexternal image huntingtons_illus_large.gifsiricopic.gif